Facial dysmorphism, hirsutism, and failure to thrive as manifestation of Leigh syndrome in a child with SURF1 mutation
We report a case of 22-month-old female child presenting to us with severe failure to thrive, dysmorphic features, hirsutism, external ophthalmoplegia epilepsy, and neuroregression with characteristic findings of Leigh’s syndrome on neuroimaging and her muscle biopsy revealed evidence of mitochondrial respiratory chain defect involving complex IV and SURF1 mutation. (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - June 30, 2020 Category: Neuroscience Authors: Dhinesh Baskaran Nahin Hussain Source Type: research
Dermatological signs lead to discovery of mosaic ACTB variants in segmental odonto-maxillary dysplasia.
Abstract Segmental odontomaxillary dysplasia (SOD) is a rare condition of unknown incidence, with approximately 60 cases reported (as reviewed in 2018)1 . It presents at birth or during childhood with a constellation of ipsilateral facial signs: non-progressive/slowly-progressive overgrowth or undergrowth of soft tissues and/or bones (typically centred on the posterior maxilla, and leading to facial asymmetry), dental anomalies (missing teeth or abnormal dentition), gingival hyperplasia or abnormal gingivae, commissural lip fissures, hypertrichosis, cutaneous hyperpigmentation and/or erythema, cutaneous depression...
Source: The British Journal of Dermatology - June 25, 2020 Category: Dermatology Authors: Polubothu S, Abdin D, Barysch M, Thomas A, Bulstrode N, Evans R, Solman L, Obwegeser J, Hennekam RC, Weibel L, Calder A, Di Donato N, Kinsler VA Tags: Br J Dermatol Source Type: research
A new approach for treatment of congenital melanocytic nevi with hypertrichosis: the Depilendolaser technique
ConclusionThe authors describe a new laser technique for depigmentation and epilation and their experience in the treatment of CMN with hypertrichosis. Data collected in this study showed first of all an extreme safety and tolerability of the procedure in children and young patients, with no adverse effects such as skin atrophy, pathological scarring and aesthetic improvement.Level of evidence: Level I, therapeutic; risk/prognostic study. (Source: European Journal of Plastic Surgery)
Source: European Journal of Plastic Surgery - May 22, 2020 Category: Cosmetic Surgery Source Type: research
Porphyria Cutanea Tarda due to Primary Hemochromatosis.
A 56-year-old woman with no history of comorbidities or medication intake presented with a 1-year history of blisters and erosions affecting dorsum of the hands, forearms, cheeks, and forehead. She complained of pain and burning at those sites and lesions were refractory to potent topical corticosteroids and antibiotics. On physical examination, she had a localized eruption consisting of erosions, blisters, and milia on the dorsum of hands (Figure 1). On the face, she presented with erosions and mild hypertrichosis. (Source: The American Journal of Medicine)
Source: The American Journal of Medicine - May 12, 2020 Category: General Medicine Authors: Jorge Larrondo, Marianne Gosch Tags: Clinical Communication to the Editor Source Type: research
Porphyria Cutanea Tarda Due to Primary Hemochromatosis
A 56-year-old woman with no history of comorbidities or medication intake presented with a 1-year history of blisters and erosions affecting the dorsum of the hands, forearms, cheeks, and forehead. She complained of pain and burning at those sites, and lesions were refractory to potent topical corticosteroids and antibiotics. On physical examination, she had a localized eruption consisting of erosions, blisters, and milia on the dorsum of hands (Figure 1A). On the face, she presented with erosions and mild hypertrichosis. (Source: The American Journal of Medicine)
Source: The American Journal of Medicine - May 12, 2020 Category: General Medicine Authors: Jorge Larrondo, Marianne Gosch Tags: Clinical Communication to the Editor Source Type: research
[Cutaneous signs of occult cranial and spinal dysraphism].
ogie pédiatrique Abstract Dysraphism refers to neural tube closure abnormalities and midline closure abnormalities of the skin, paravertebral muscles, vertebrae and meninges. Cranial dysraphism (CD) and occult spinal dysraphism (OSD) may be discovered via evocative skin signs present at birth or appearing later in childhood or even in adulthood. This review describes the various types of skin signs associated with CD and OSD. All congenital midline skin lesions, particularly on the frontonasal area, the vertex or the occipitocervical and low back regions, should prompt suspicion of underlying dysraphism. Th...
Source: Annales de Dermatologie et de Cenereologie - April 24, 2020 Category: Dermatology Authors: Bessis D, Société française de dermatologie pédiatrique Tags: Ann Dermatol Venereol Source Type: research
The Case | Bullous eruptions in end-stage renal failure
A 77-year-old woman of Indian ethnicity with end-stage renal failure (ESRF) had been on maintenance hemodialysis since 2012. She initially noted patches of hypertrichosis on her arms. Over the next 3 months, she developed hyperpigmentation, crusted erosions, and bullae (Figure 1). Skin and hair changes were evident on the face, forearms, and dorsum of the hands (Supplementary Figure S1). She went on to develop skin blistering, which left scars. On examination, there were crusted erosions on the forearms and intact bullae on the sides of her fingers (Figure 2). (Source: Kidney International)
Source: Kidney International - April 21, 2020 Category: Urology & Nephrology Authors: Jeffrey Harte, Ananda Chapagain, Robert P.E. Sarkany, Saurabh Chaudhri Tags: Make Your Diagnosis Source Type: research
Non-corticosteroid immunosuppressive medications for steroid-sensitive nephrotic syndrome in children.
CONCLUSIONS: New studies incorporated in this review indicate that rituximab is a valuable additional agent for managing children with steroid-dependent nephrotic syndrome. However, the treatment effect is temporary, and many children will require additional courses of rituximab. The long-term adverse effects of this treatment are not known. Comparative studies of CNIs, MMF, levamisole and alkylating agents have demonstrated little or no differences in efficacy but, because of insufficient power; clinically important differences in treatment effects have not been completely excluded. PMID: 32297308 [PubMed - in proces...
Source: Cochrane Database of Systematic Reviews - April 16, 2020 Category: General Medicine Authors: Larkins NG, Liu ID, Willis NS, Craig JC, Hodson EM Tags: Cochrane Database Syst Rev Source Type: research
Generalized hypertrichosis in an infant after treatment with propranolol for infantile hemangioma
Roberto Mendez-Gallart, María García-Palacios, Jorge Cortizo-Vazquez, Adolfo Bautista-CasasnovasIndian Journal of Dermatology, Venereology, and Leprology 2020 86(3):311-313 (Source: Indian Journal of Dermatology, Venereology and Leprology)
Source: Indian Journal of Dermatology, Venereology and Leprology - April 9, 2020 Category: Dermatology Authors: Roberto Mendez-Gallart Mar & #237;a Garc & #237;a-Palacios Jorge Cortizo-Vazquez Adolfo Bautista-Casasnovas Source Type: research
Changes in Prostaglandin-associated Periorbital Syndrome After Switch from Conventional Prostaglandin F2α Treatment to Omidenepag Isopropyl in 11 Consecutive Patients
Conclusions: Some PAPS signs improved after patients started taking omidenepag isopropyl. Our findings will be useful for patients taking antiglaucoma eye drops. (Source: Journal of Glaucoma)
Source: Journal of Glaucoma - April 1, 2020 Category: Opthalmology Tags: Case Report/Small Case Series Source Type: research
Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report
Rationale: Wiedemann-Steiner syndrome (WDSTS, online mendelian inheritance in man 605130) is a rare autosomal dominant disorder characterized by hypertrichosis cubiti. Here, we report a Chinese boy who do not show the characteristic of hypertrichosis cubiti, and was misdiagnosed as blepharophimosis-ptosis-epicanthus inversus syndrome at first. We found a de novo frameshift mutation (p.Glu390Lysfs∗10) in the KMT2A gene, which was not reported before. Our study increases the cohort of Chinese WDSTS patients, and expand the WDSTS phenotypic and variation spectrum. Patient concerns: The patient demonstrated typical...
Source: Medicine - April 1, 2020 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Thrombosis revealing POEMS syndrome. About a case.
We describe an observation of a patient with recurrent thrombosis with thrombocytosis that, after excluding a myeloproliferative neoplasm, proved to be due to POEMS syndrome. This case is unusual compared to the foreground thrombotic symptomatology. POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, skin changes) is a rare multi-systematic paraneoplastic disorder due to an underlying plasma cell disorder. The diagnosis of POEMS syndrome requires the presence of both mandatory criteria (a chronic polyneuropathy and a monoclonal plasma cell-proliferative disorder, always lambda restricted); at ...
Source: Annales de Biologie Clinique - March 12, 2020 Category: Biochemistry Authors: Dumas C, Bienvenu FH, Hicks J, Weber E, Sève P Tags: Ann Biol Clin (Paris) Source Type: research
Hypertrichotic patches as a mosaic manifestation of Proteus syndrome
The diagnosis of Proteus syndrome frequently involves identification of skin lesions comprising specific criteria and sampling affected skin useful for genetic analysis. The majority of individuals with Proteus syndrome have hypertrichosis in an asymmetric distribution, a finding that should prompt consideration of this disorder and mosaic activation of PI3K-AKT signaling. (Source: Journal of the American Academy of Dermatology)
Source: Journal of the American Academy of Dermatology - February 6, 2020 Category: Dermatology Authors: Deeti J. Pithadia, John W. Roman, Julie C. Sapp, Leslie G. Biesecker, Thomas N. Darling Source Type: research
Erythrokeratodermia variabilis with hypertrichosis on the lesions.
PMID: 31977560 [PubMed - as supplied by publisher] (Source: Chinese Medical Journal)
Source: Chinese Medical Journal - January 20, 2020 Category: General Medicine Authors: Wu JP, Ge HS, Yang C Tags: Chin Med J (Engl) Source Type: research
Gingival fibromatosis with congenital hypertrichosis
We present a case report of a female with severe generalized gingival fibromatosis and hypertrichosis which was treated by conventional gingivectomies under local anesthesia. Postoperative healing was uneventful with a marked improvement in patient's appearance and oral hygiene. (Source: Journal of Indian Society of Periodontology)
Source: Journal of Indian Society of Periodontology - January 2, 2020 Category: Dentistry Authors: Sameer Saxena Gouri Bhatia Karthik Munagala Krishna Shalabh Mehrotra Source Type: research
First Korean Case of Coffin-Siris Syndrome with a Novel Frameshift ARID1B Mutation.
Abstract Coffin-Siris Syndrome (CSS) is a rare neurodevelopmental disorder characterized by intellectual disability, coarse facial features, hypoplastic digits/nails, and hypertrichosis. The genes causative of CSS mainly encode the SWI/SNF complex, which contributes to chromatin remodeling and regulates the access of transcriptional factors to specific gene sites. While ARID1B mutations account for a third of all CSS cases, the condition's phenotypic features vary widely. We document the case of a girl with CSS who presented with a variant facial appearance, global developmental delay with speech impairment, agene...
Source: Annals of Clinical and Laboratory Science - January 1, 2020 Category: Laboratory Medicine Authors: Lee BL, Oh SH, Jun KR, Hur YJ, Lee JE, Keum C, Chung WY Tags: Ann Clin Lab Sci Source Type: research
A retrospective study: Clinicopathological and immunohistochemical analysis of 54 cases of tufted angioma
Conclusions: Tufted angioma is a rare vascular neoplasm with diverse clinical manifestations and unique pathological features. It should be recognized as a vascular tumor with lymphatic differentiation. We emphasize the importance of considering tufted angioma in the differential diagnoses of any congenital or acquired vascular tumor. (Source: Indian Journal of Dermatology, Venereology and Leprology)
Source: Indian Journal of Dermatology, Venereology and Leprology - December 20, 2019 Category: Dermatology Authors: Xin Su Yu Liu Yanghe Liu Cuiling Ma Source Type: research
Osteopontin regulatory functions in the hair follicle open a therapeutic approach for hypertrichosis.
PMID: 31774146 [PubMed - as supplied by publisher] (Source: The British Journal of Dermatology)
Source: The British Journal of Dermatology - November 27, 2019 Category: Dermatology Authors: Weiss JM Tags: Br J Dermatol Source Type: research
Rhinologic signs associated with snuff taking
Publication date: Available online 4 November 2019Source: European Annals of Otorhinolaryngology, Head and Neck DiseasesAuthor(s): S.H.R. Hounkpatin, M.C. Flatin, A.F. Bouraima, H.N. Amegan, M.A.F. Toukourou Adios, W. AdjibabiAbstractObjectiveTo study rhinologic signs associated with nasal tobacco (snuff) intake in Parakou, northern Benin.Materials and methodsA cross-sectional descriptive comparative study included 300 tobacco snuff takers and 300 subjects who did not use tobacco at all. The sampling technique was a stratified 4-stage random sample for non-users and a convenience non-random sample for snuff takers.ResultsT...
Source: European Annals of Otorhinolaryngology, Head and Neck Diseases - November 5, 2019 Category: ENT & OMF Source Type: research
An osteopontin-derived peptide inhibits human hair growth at least in part by decreasing FGF7 production in outer root sheath keratinocytes.
CONCLUSION: With caveats in mind, our study identifies this osteopontin-derived peptide as an effective, novel inhibitory principle for human hair growth ex vivo and in vivo, which deserves systematic clinical testing in hirsutism and hypertrichosis. This article is protected by copyright. All rights reserved. PMID: 31487385 [PubMed - as supplied by publisher] (Source: The British Journal of Dermatology)
Source: The British Journal of Dermatology - September 5, 2019 Category: Dermatology Authors: Alam M, Bertolini M, Gherardini J, Keren A, Ponce L, Chéret J, Alenfall J, Dunér P, Nilsson AH, Gilhar A, Paus R Tags: Br J Dermatol Source Type: research
Intense pulsed light treatment for Becker's nevus.
Conclusions: IPL is an effective and well-tolerated treatment option for patients with hypertrichotic and atrichotic BN. PMID: 31416363 [PubMed - as supplied by publisher] (Source: Journal of Dermatological Treatment)
Source: Journal of Dermatological Treatment - August 18, 2019 Category: Dermatology Tags: J Dermatolog Treat Source Type: research
You "Cantu": Multidisciplinary Collaboration Resulting in Successful Orthognathic Surgery.
You "Cantu": Multidisciplinary Collaboration Resulting in Successful Orthognathic Surgery. Cleft Palate Craniofac J. 2019 Aug 11;:1055665619868043 Authors: Kurian C, Pinamonti G, Starling Hughes S, Martin J, Lypka M Abstract Cantú syndrome (CS) is a rare autosomal dominant disorder caused by a heterozygous pathogenic variant in the ABCC9 or KCNJ8 gene. The disorder is characterized by congenital generalized hypertrichosis, coarse acromegaloid facial features (broad nasal bridge, epicanthal folds, wide mouth, macroglossia), skeletal abnormalities (calvarial thickening, metaphyseal flar...
Source: The Cleft Palate-Craniofacial Journal - August 11, 2019 Category: ENT & OMF Authors: Kurian C, Pinamonti G, Starling Hughes S, Martin J, Lypka M Tags: Cleft Palate Craniofac J Source Type: research
Gardner fibroma with localized hypertrichosis without adenomatous polyposis coli gene mutation.
PMID: 31403969 [PubMed - as supplied by publisher] (Source: Chinese Medical Journal)
Source: Chinese Medical Journal - August 9, 2019 Category: General Medicine Authors: Yao XY, Wen GD, Che DD, Shen DH, Zhang JZ, Zhou C Tags: Chin Med J (Engl) Source Type: research
The phytocannabinoid (-)-cannabidiol (CBD) operates as a complex, differential modulator of human hair growth: Anti-inflammatory submicromolar versus hair growth inhibitory micromolar effects
Most cases of excessive hair loss and unwanted hair growth (effluvium, alopecia, hirsutism, hypertrichosis) result in part from major disturbances in the cyclic transformation of hair follicles (HFs), namely in their switch from active growth and pigmented hair shaft production (anagen) to apoptosis-driven HF involution (catagen) (Oh et al. 2016; Paus and Cotsarelis 1999). It is now clear that this switch also underlies profound neuroendocrine controls that still await systematic therapeutic targeting (Paus et al. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - July 29, 2019 Category: Dermatology Authors: Imre L. Szab ó, Erika Herczeg-Lisztes, Gabriella Béke, Kinga Fanni Tóth, Ralf Paus, Attila Oláh, Tamás Bíró Tags: Letters to the Editor Source Type: research
The Phytocannabinoid ( –)-Cannabidiol Operates as a Complex, Differential Modulator of Human Hair Growth: Anti-Inflammatory Submicromolar versus Hair Growth Inhibitory Micromolar Effects
Most cases of excessive hair loss and unwanted hair growth (e.g., effluvium, alopecia, hirsutism, hypertrichosis) result in part from major disturbances in the cyclic transformation of hair follicles (HFs), namely in their switch from active growth and pigmented hair shaft production (anagen) to apoptosis-driven HF involution (catagen) (Oh et al., 2016; Paus and Cotsarelis, 1999). It is now clear that this switch is profoundly influenced by complex neuroendocrine pathways, which still await systematic therapeutic targeting (Paus et al., 2014). (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - July 29, 2019 Category: Dermatology Authors: Imre L. Szab ó, Erika Lisztes, Gabriella Béke, Kinga Fanni Tóth, Ralf Paus, Attila Oláh, Tamás Bíró Tags: Letters to the Editor Source Type: research
Differences in skin lesions of endogenous and exogenous Cushing's patients.
Conclusions: Since Cushing's syndrome is a rare disease and it is often diagnosed later in life, data on the frequency of skin findings are limited and sparse in the literature. In the comparison of endogenous Cushing's and exogenous Cushing's groups, acne, hypertrichosis, and fungal infections were found more frequently in the exogenous Cushing's group and hirsutism more frequently in the endogenous Cushing's group. PMID: 31333343 [PubMed] (Source: Advances in Dermatology and Allergology)
Source: Advances in Dermatology and Allergology - July 25, 2019 Category: Dermatology Tags: Postepy Dermatol Alergol Source Type: research
A case of H syndrome with a novel mutation in SLC29A3
In this report, we present a 4.5 year old girl diagnosed with H syndrome based on genetic investigation. (Source: Meta Gene)
Source: Meta Gene - July 3, 2019 Category: Genetics & Stem Cells Source Type: research
Localized Hypertrichosis with Traumatic Panniculitis: A Case Report and Literature Review
Localized hypertrichosis with traumatic panniculitis is considered a rare condition. Previous articles have reported occurrence in females aged between 20 and 35 years. Possible mechanisms of trauma-induced localized hypertrichosis include hyperemia and angiogenesis induced by local inflammation, which can alter the hair growth cycle. The presence of inflammatory cells and lipomembranous changes on histopathology can support the diagnosis. We herein present a 35-year-old female patient with localized hypertrichosis following blunt trauma.Case Rep Dermatol 2019;11:180 –186 (Source: Case Reports in Dermatology)
Source: Case Reports in Dermatology - June 26, 2019 Category: Dermatology Source Type: research
Effects of Cyclosporine on Palmoplantar Pustulosis and Serum Expression of IL-17, IL-23, and TNF- α
ConclusionCyclosporine is a safe and effective treatment for PPP with few adverse effects, which might be related to the regulation of IL-23 and TNF- α. (Source: Dermatology and Therapy)
Source: Dermatology and Therapy - June 25, 2019 Category: Dermatology Source Type: research
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome
We report de novo missense variants in KCNN3 in three individuals with typical clinical features of ZLS. KCNN3 (SK3/KCa2.3) constitutes one of three members of the small-conductance Ca2+-activated K+ (SK) channels that are part of a multiprotein complex consisting of the pore-forming channel subunits, the constitutively bound Ca2+ sensor calmodulin, protein kinase CK2, and protein phosphatase 2A. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - May 30, 2019 Category: Genetics & Stem Cells Authors: Christiane K. Bauer, Pauline E. Schneeberger, Fanny Kort üm, Janine Altmüller, Fernando Santos-Simarro, Laura Baker, Jennifer Keller-Ramey, Susan M. White, Philippe M. Campeau, Karen W. Gripp, Kerstin Kutsche Tags: Article Source Type: research
Role of TREK-1 in Health and Disease, Focus on the Central Nervous System
Conclusion and Perspectives Since their cloning 20 years ago, the physiological importance of TREK-1 channels has continued to grow (Figure 3). Today, TREK-1 channels have been shown to be important and their presence is essential in a number of physiopathological processes. Their involvement in these different processes demonstrate the necessity to design pharmacological modulators, activators or inhibitors, of these channels to correct any TREK-1-related dysfunctions. Despites a number of studies and many molecule screenings, only few putative new drugs were identified. The activators belonging to the ML and BL series ...
Source: Frontiers in Pharmacology - April 11, 2019 Category: Drugs & Pharmacology Source Type: research
Indurated dusky red swelling on the forearm of an infant: Tufted angioma
We present a case of 8-months-old infant with TA over the right forearm with classical clinical, histoptahological and immunohistochemistry features. (Source: Indian Journal of Dermatology)
Source: Indian Journal of Dermatology - March 14, 2019 Category: Dermatology Authors: Deepak Jakhar Archana Singal Ishmeet kaur Priya Pathak Source Type: research
Lasers for Becker ’s nevus
AbstractBecker ’s nevus is a common pigmented dermatosis, usually featured by ipsilateral pigmented patch with hypertrichosis. Becker’s nevus is often treated with various types of lasers although other regimens are available. However, clinical outcomes appear inconsistent among studies. To summarize the clini cal outcomes of Becker’s nevus treated with lasers via literature review. A variety of lasers had been used alone or in combination to treat Becker’s nevus. Laser wavelengths used for Becker’s nevus ranged from 504 to 10,600 nm, while the number of treatment varied from 1 to 12 sess...
Source: Lasers in Medical Science - February 14, 2019 Category: Laser Surgery Source Type: research
Prostaglandin Levels in the Tears of Patients with Mucous Membrane Pemphigoid
Mucous Membrane Pemphigoid is a rare and debilitating disease that affects bodily mucous membranes, especially those of the eyes and oropharynx. It results in ocular surface disease leading to scarring, lid abnormalities and vision loss. Hypertrichosis associated with increased local prostaglandin levels due to topical medication or other types of ocular inflammation has been well documented. We hypothesize that mucous membrane pemphigoid also increases local prostaglandin levels and this increased concentration of prostaglandin contributes to an enhanced lash growth rate. (Source: Journal of Allergy and Clinical Immunology)
Source: Journal of Allergy and Clinical Immunology - February 1, 2019 Category: Allergy & Immunology Authors: Fadi Alkhatib, Johnny Nguyn Source Type: research
Clinical, Histochemical, and Molecular Study of Three Turkish Siblings Diagnosed with H Syndrome, and Literature Review
Conclusion: This study not only extended the clinical and mutation spectrum ofSLC29A3 in H syndrome, but also showed that short children should be assessed according to the guidelines for short stature in children.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - January 13, 2019 Category: Endocrinology Source Type: research
Acquired Localized Hypertrichosis Following Pressure Garment and/or Silicone Therapy in Burn Patients
We report on 7 burn patients who developed hypertrichosis following application of pressure garment/silicone therapy to prevent hypertrophic scarring. (Source: Annals of Plastic Surgery)
Source: Annals of Plastic Surgery - January 12, 2019 Category: Cosmetic Surgery Tags: Burn Surgery and Research Source Type: research
Periocular Manifestations of Afatinib Therapy
Epidermal growth factor receptor tyrosine kinase inhibitor therapy has been increasingly employed in the treatment of a variety of tumors. The authors report the rarely documented side effect of trichiasis with the use of Afatinib in a patient with spinal chordoma and review-related literature. A 67-year-old lady was referred to the oculoplastic service with a 3-month history of ocular irritation and pain associated with blurred vision. She has a 4-year history of spinal chordoma treated with daily Afatinib 50 mg over the past 6 months. Clinical examination revealed trichomegaly and trichiasis affecting all 4 eyelid...
Source: Ophthalmic Plastic and Reconstructive Surgery - January 1, 2019 Category: Opthalmology Tags: Case Reports Source Type: research
Acquired hypertrichosis localized on a subsiding psoriatic plaque after plaster application
We describe the case of a patient who simultaneously developed a single psoriatic plaque and overlying localized hypertrichosis after plaster application. This concurrence is exceptional and may be explained by the expression of several growth factors and cytokines influencing both the hair cycle and the psoriatic inflammatory working. (Source: International Journal of Trichology)
Source: International Journal of Trichology - December 3, 2018 Category: Dermatology Authors: Ambra Di Altobr Annalisa Patrizi Massimiliano Pazzaglia Source Type: research
A Case Report of Scrotal Rejuvenation: Laser Treatment of Angiokeratomas of the Scrotum
In conclusion, men can develop scrotal changes due to either intrinsic (aging) or extrinsic (trauma) causes, but nonsurgical interventions and surgical procedures are available for the management of these conditions in individuals who desire to rejuvenate their scrotum. (Source: Dermatology and Therapy)
Source: Dermatology and Therapy - November 26, 2018 Category: Dermatology Source Type: research
Multidisciplinary eyelid reconstruction in Barber-Say syndrome: A case report.
Authors: Barreiro-González A, Barranco-González H, Aviñó-Martínez J, López Blanco E, Gutiérrez Ontalvilla P, Évole-Buselli M Abstract Barber-Say syndrome is an unusual dysplasia caused by the mutation of the TWIST2 gene (2q37.3), which encodes a protein that acts at an epigenetic level. The case is presented of a 2-day-old male child in whom ectropion, hypertelorism, hypertrichosis and other dysmorphic features led to the clinical diagnosis of Barber-Say syndrome, which was later confirmed with genetic tests. Around 20 cases have been reported on this syndrome...
Source: Archivos de la Sociedad Espanola de Oftalmologia - November 22, 2018 Category: Opthalmology Tags: Arch Soc Esp Oftalmol Source Type: research
Skin lesions in organ transplant recipients: a study of 177 consecutive Brazilian patients
AbstractBackgroundSkin lesions are very common among organ transplant recipients (OTR), particularly infections and tumors, because of the immunosuppressive state these patients are put in.Methods177 OTR were examined. Skin lesions were categorized into neoplastic, infectious, and inflammatory diseases.ResultsThe mean age of OTR was 52 years, the mean age at transplantation was 42.7 years, and kidney was the most common organ transplanted (72%). Skin lesions were found in 147 patients (83%). Cutaneous infections were seen in 106 patients (60%). Warts (30%) had the larger incidence and were associated with azathi...
Source: International Journal of Dermatology - November 22, 2018 Category: Dermatology Authors: Walmar R. P. Oliveira, Maria C. C. P. Tirico, Anaisa A. V. Souza, Felipe R. Codarin, Lana L. C. Silva, Cyro Festa Neto Tags: Report Source Type: research
Progressive discoloration over the right shoulder.
Abstract The discolored patch on our patient's shoulder was nothing new-but when it grew in size and developed hypertrichosis, it prompted a closer investigation. PMID: 30481248 [PubMed - in process] (Source: The Journal of Family Practice)
Source: The Journal of Family Practice - November 1, 2018 Category: Practice Management Authors: Helm MF, Cole D, Seiverling EV Tags: J Fam Pract Source Type: research
Genital Rejuvenation: The Next Frontier in Medical and Cosmetic Dermatology
Genital rejuvenation encompasses not only the nonsurgical interventions but also the surgical procedures that are utilized to improve the functional aspects and/or enhance the aesthetic presentation of the genitalia of women (vaginal rejuvenation) and men (scrotal rejuvenation). Vaginal rejuvenation was introduced into the medical literature in 2007; yet, within the last decade, physician and patient interest in this field has markedly increased. In contrast, the term scrotal rejuvenation was only coined in 2018. Rejuvenation of the genitalia may be considered for hair-associated (alopecia and hypertrichosis), morphology-a...
Source: Dermatology Online Journal - October 24, 2018 Category: Dermatology Source Type: research
Orthognathic Surgical Correction in Patients with Cantu Syndrome: Medical Considerations
Cantu Syndrome (CS) is a rare autosomal dominant disorder in the ABCC9 or KCNJ8 gene characterized by congenital generalized hypertrichosis, coarse facial features (broad nasal bridge, epicanthal folds, wide mouth, macroglossia), skeletal abnormalities (calvarial thickening, metaphyseal flares, coxa valga, scoliosis), and cardiac issues (patent ductus arteriosis (PDA), pericardial effusion). Despite commonly described craniofacial differences, there are currently no documented cases of a patient with CS having orthognathic surgery in the literature. (Source: Journal of Oral and Maxillofacial Surgery)
Source: Journal of Oral and Maxillofacial Surgery - October 1, 2018 Category: ENT & OMF Authors: C. Kurian, M.A. Lypka Tags: Poster Session: Pediatrics Source Type: research
Genital Rejuvenation: The Next Frontier in Medical and Cosmetic Dermatology.
Abstract Genital rejuvenation encompasses not only the nonsurgical interventions but also the surgical procedures that are utilized to improve the functional aspects and/or enhance the aesthetic presentation of the genitalia of women (vaginal rejuvenation) and men (scrotal rejuvenation). Vaginal rejuvenation was introduced into the medical literature in 2007; yet, within the last decade, physician and patient interest in this field has markedly increased. In contrast, the term scrotal rejuvenation was only coined in 2018. Rejuvenation of the genitalia may be considered for hair-associated (alopecia and hypertricho...
Source: Dermatol Online J - September 15, 2018 Category: Dermatology Authors: Cohen PR Tags: Dermatol Online J Source Type: research
RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann –Steiner Syndrome
AbstractA growing number of histone modifiers are involved in human neurodevelopmental disorders, suggesting that proper regulation of chromatin state is essential for the development of the central nervous system. Among them, heterozygous de novo variants inKMT2A, a gene coding for histone methyltransferase, have been associated with Wiedemann –Steiner syndrome (WSS), a rare developmental disorder mainly characterized by intellectual disability (ID) and hypertrichosis. As KMT2A is known to regulate the expression of multiple target genes through methylation of lysine 4 of histone 3 (H3K4me), we sought to investigate...
Source: NeuroMolecular Medicine - September 1, 2018 Category: Neurology Source Type: research
Giant fibrous hamartoma of infancy: pitfall of CD34 positive dermal mesenchymal tumor
Fibrous hamartoma of infancy (FHI) is a rare benign soft tissue tumor with a triphasic organoid histologic appearance. The authors present a case of a 21-month-old healthy girl with a slowly growing flesh-colored subcutaneous plaque 12cm in size on the lower back, with overlying hypertrichosis. A punch biopsy revealed a proliferation of spindle cells infiltrating the dermis and hypodermis organized in a dense storiform pattern with a strong diffuse positivity for CD34. The diagnosis of congenital dermatofibrosarcoma protuberans (DFSP) was considered and an excision was performed. Histopathologic analysis showed an extensiv...
Source: Dermatology Online Journal - August 22, 2018 Category: Dermatology Source Type: research